Review of Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disease characterized by pancreatic insufficiency and chronic endobronchial airway infection. This latter feature results in progressive bronchiectasis and ultimately respiratory failure, which is the leading cause of death in patients with CF. Other co...

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Bibliographic Details
Published in:Pediatric annals 2019-04, Vol.48 (4), p.e154-161
Main Authors: Goetz, Danielle, Ren, Clement L
Format: Article
Language:English
Subjects:
Age
Airway management
Algorithms
Anatomy
Children & youth
Chloride
Clinical Diagnosis
Coding
Cystic fibrosis
Cystic Fibrosis - complications
Cystic Fibrosis - diagnosis
Cystic Fibrosis - therapy
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Diagnostic tests
Genetic Disorders
Genetics
Humans
Infant
Infant, Newborn
Item Response Theory
Liability
Lung diseases
Lungs
Measurement Techniques
Medical screening
Metabolism
Mutation
Neonatal Screening - methods
Neonates
Newborn babies
Nutrition
Osteoporosis
Patients
Pediatrics
Pregnancy
Quality of life
Respiratory failure
Vitamin deficiency
Young Children
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Description
Summary:Cystic fibrosis (CF) is an autosomal recessive disease characterized by pancreatic insufficiency and chronic endobronchial airway infection. This latter feature results in progressive bronchiectasis and ultimately respiratory failure, which is the leading cause of death in patients with CF. Other complications include sinusitis, diabetes mellitus, bowel obstruction, hepatobiliary disease, hyponatremic dehydration, and infertility. Diagnosis of CF is confirmed by demonstration of elevated sweat chloride. Most cases of CF are identified through newborn screening (NBS). There are also infants with positive NBS but inconclusive diagnostic testing; a small proportion of these infants may go on to develop CF. CF is a lifelong, life-limiting disease, but an organized care center network with multidisciplinary approach, quality improvement initiatives, and research has led to markedly increased survival and development of adult CF care programs. In the past few years, medications that directly target the underlying CF defect have been developed, which should result in even greater survival benefits. [Pediatr Ann. 2019;48(4):e154-e161.].
ISSN:0090-4481
1938-2359
DOI:10.3928/19382359-20190327-01